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Elevated birth prevalence of conotruncal heart defects in a population with high consanguinity rate

Moshe Stavsky1, Renana Robinson1, Maayan Yitshak Sade1

  • 11Joyce and Irving Goldman Medical School, Faculty of Health Sciences,Ben-Gurion University of the Negev,Beer-Sheva,Israel.

Cardiology in the Young
|March 17, 2016
PubMed

Insights

Conotruncal heart defects are more common in southern Israel

Area of Science:

  • Cardiology
  • Pediatrics
  • Genetics

Background:

  • The causes of conotruncal heart defects (CTHD) are not fully understood, with varying geographical prevalence.
  • Known risk factors include family history of congenital heart defects (CHD), chromosomal abnormalities, advanced paternal age, high parity, low birth weight, prematurity, and maternal diabetes.

Purpose of the Study:

  • To characterize the birth prevalence, mortality, and morbidity of CTHD in southern Israel's diverse population (Jewish and Bedouin Arab).

Main Methods:

  • Utilized data from Soroka University Medical Center's birth and newborn database from 1991-2011.
  • Identified CTHD cases using ICD9 codes.

Main Results:

  • Observed 393 CTHD cases among 247,290 singleton live births.
  • Tetralogy of Fallot, transposition of the great arteries, and truncus arteriosus prevalence per 10,000 live births were 9.5, 5, and 1.8, respectively.
  • Bedouin descent, older paternal age, and sibling history of CHD were associated with Tetralogy of Fallot; Bedouin descent, sibling history of CHD, and diabetes mellitus were associated with transposition of the great arteries; Bedouin descent and sibling history of CHD were associated with truncus arteriosus.

Conclusions:

  • Southern Israel exhibits a higher CTHD birth prevalence than global rates, particularly among Bedouins, a population with high consanguinity.
  • Recommend genetic counseling and early fetal echocardiograms, especially in high consanguinity populations.
  • Emphasize educational initiatives to reduce consanguinity and its associated health consequences.
Abstract

Keywords:
Conotruncal defectsconsanguinitytetralogy of Fallottransposition of the great arteriestruncus arteriosus

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